MPZ Gene
protein-coding GIFtS: 62
GCID: GC01M161274
|
|
myelin protein zero(Previous name: Charcot-Marie-Tooth neuropathy 1B )
(Previous symbols: CMT1, CMT1B)
| |
Aliases
for MPZ gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Myelin Protein Zero1 2 3 | | CMTDI32 5 | | CMT1B1 2 5 | | DSS2 5 | | CMT11 2 | | CMT2I2 | | HMSNIB1 2 | | CMT2J2 | | Charcot-Marie-Tooth Neuropathy 1B1 2 | | CMT4E2 | | Myelin Peripheral Protein2 3 | | CMTDID2 | | MPP2 3 | | P02 | | CHM2 5 | | Myelin Protein P02 |
Export aliases for MPZ gene to outside databasesPrevious GC identifers: GC01M158985 GC01M157006 GC01M158052 GC01M158491 GC01M158087 GC01M159541 GC01M132631 |
Summaries
for MPZ gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for MPZ:
This gene encodes a major structural protein of peripheral myelin. Mutations in this gene result in the autosomaldominant form of Charcot-Marie-Tooth disease type 1 and other polyneuropathies. (provided by RefSeq, Apr 2010)
UniProtKB/Swiss-Prot: MYP0_HUMAN, P25189Function: Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacentlamellae
Gene Wiki entry for MPZ (Myelin protein zero)
|
Genomic Views
for MPZ gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000001.10 NC_018912.1 NT_004487.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the MPZ gene promoter:
CREB deltaCREB
Other transcription factors
Search SABiosciences Chromatin IP Primers for MPZ
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPZ |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 1q23.3 Ensembl cytogenetic band: 1q23.3 HGNC cytogenetic band: 1q22MPZ Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 1 GeneLoc Exon Structure GeneLoc location for GC01M161274: view genomic region
(about GC identifiers)
Start:
|
161,274,525 bp from pter |
End:
|
161,279,762 bp from pter |
Size:
|
5,238 bases |
Orientation:
|
minus strand |
|
Proteins
for MPZ gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: MYP0_HUMAN, P25189 (See
protein sequence)Recommended Name: Myelin protein P0 precursor Size: 248 amino acids; 27555 Da
Subunit: Homodimer and homotetramer (Probable)
Subcellular location: Cell membrane; Single-pass type I membrane protein
Subcellular location: Isoform L-MPZ: Myelin membrane; Single-pass type I membrane protein
Sequence caution: Sequence=AAH06491.1; Type=Erroneous initiation; Sequence=AAP35411.1; Type=Erroneous initiation;Sequence=BAA03540.1; Type=Erroneous initiation; Sequence=BAG36330.1; Type=Erroneous initiation; Sequence=CAH70270.1;Type=Erroneous initiation; Sequence=EAW52606.1; Type=Erroneous initiation;
2 PDB 3D structures from  and Proteopedia  for MPZ:1N2P (3D)
3OAI (3D)
Secondary accessions: Q16072 Q5VTH4 Q92677 Q9BR67Alternative splicing: 2 isoforms: P25189-1 P25189-2 (Based on a naturally occurring readthrough transcript. Highly antigenic)Explore the universe of human proteins at neXtProt for MPZ: NX_P25189
Post-translational modifications:
N-glycosylated; contains sulfate-substituted glycan (By similarity)1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P25189
MPZ Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000521.2
ENSEMBL proteins: ENSP00000431538 ENSP00000432943 ENSP00000431441 ENSP00000337777 ENSP00000353634
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
MPZ for ontologies About GeneDecksing
MPZ Antibody Products:
Assay Products for MPZ: |
Protein
Domains /
Families
for MPZ gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MPZ for domains About GeneDecksing
5/7 InterPro domains/families (see all 7):Graphical View of Domain Structure for InterPro Entry P25189ProtoNet protein and cluster: P25189 3 Blocks protein families: IPB000920 Myelin P0 protein IPB003596 Immunoglobulin V-type IPB013106 Immunoglobulin V-set
UniProtKB/Swiss-Prot: MYP0_HUMAN, P25189Similarity: Belongs to the myelin P0 protein familySimilarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain |
Function
for MPZ gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: MYP0_HUMAN, P25189Function: Creation of an extracellular membrane face which guides the wrapping process and ultimately compacts adjacentlamellae Genatlas biochemistry entry for MPZ:myelin protein zero,14.8kDa,adhesion molecule,expressed in Schwann all of the peripheral nervous sytem,involved information and maintenance of compact myelin
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPZ (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MPZ
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: MPZ (NM_000530) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MPZ | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPZ |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPZ |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005198 | structural molecule activity |
NAS | 7693129 |
MPZ for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for MPZ:
Animal Models:
Mouse knock-out Mpztm1Msch for MPZ
8 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Mpz):
MPZ for phenotypes About GeneDecksing
|
Pathways & Interactions
for MPZ gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Neural Crest Differentiation | | | 2 | Cell adhesion molecules (CAMs) | |
Pathway sources
See GeneCards unified pathways
Show all pathways
1  BioSystems Pathway for MPZ
1 
Kegg Pathway (Kegg details for MPZ):
MPZ for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MPZ
STRING Interaction
Network Preview (showing 5 interactants - click image to see 8)
5/11 Interacting proteins for MPZ (P251892, 3 ENSP000003536344) via UniProtKB, MINT, STRING, and/or I2D (see all 11)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
MPZ for ontologies About GeneDecksing
|
Drugs & Compounds
for MPZ gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MPZ for compounds About GeneDecksing
 Browse Tocris compounds for MPZ
10/33 Novoseek chemical compound relationships for MPZ gene (see all 33) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| 2',3'-cyclic nucleotide |
84.5 |
10 |
10658180 (1), 12225906 (1), 19187445 (1), 19473295 (1) (see all 10) |
| dihydroprogesterone |
70.1 |
4 |
17187935 (2), 15850671 (1), 10340743 (1) |
| benzyldimethyl-n-hexadecylammonium chloride |
64 |
1 |
17960831 (1) |
| glatiramer acetate |
48.7 |
3 |
18611988 (1), 14732933 (1), 11113226 (1) |
| sulfatide |
40.3 |
2 |
15193296 (2) |
| cerebrosides |
34.9 |
1 |
7800125 (1) |
| 3-((3-cholamidopropyl)dimethylammonio)-1-propanesulfonate |
32.4 |
1 |
12872231 (1) |
| tellurium |
28.4 |
1 |
9342732 (1) |
| pentosidine |
22.2 |
2 |
7751847 (1), 12198817 (1) |
| ganglioside |
18.9 |
3 |
1966017 (1), 18342620 (1) |
Search CenterWatch for drugs/clinical trials and news about MPZ / MYP0
|
Transcripts
for MPZ gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for MPZ gene: NM_000530.6 Unigene Cluster for MPZ: Myelin protein zero Hs.591486 [show with all ESTs]Unigene Representative Sequence: NM_0005308 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000463290 ENST00000533357(uc001gaf.4) ENST00000491222 ENST00000526189
ENST00000476410 ENST00000488271 ENST00000336559 ENST00000360451
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPZ (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MPZ
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: MPZ (NM_000530) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for MPZ | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPZ |
Additional cDNA sequence: AK313555.1 BT006765.1 D10537.1 S66705.1 6 DOTS entries: DT.100797878 DT.100027827 DT.100797876 DT.91757439 DT.100797877 DT.97773438 24/106 AceView cDNA sequences (see all 106): CD172418 BQ718867 CD518464 BQ879736 BM663255 BQ889135 CD245726 CD515605 CD517321 CD172093 BQ719539 CD518611 CD517340 CD172268 BQ942129 CD245143 CD519678 NM_000530 CD516933 CD516663 BQ889715 CD514837 BT006765 CD515400
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for MPZ About this scheme
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 |
|---|
|
| SP1: | | | - | | | | | | | | | | | | | | | | | | - | | | | |
| SP2: | | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | - | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for MPZ
|
Expression
for MPZ gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MPZ expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGCTTTTGC
About this image
See MPZ Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MPZ
SOURCE GeneReport for Unigene cluster: Hs.591486
UniProtKB/Swiss-Prot: MYP0_HUMAN, P25189Tissue specificity: Found only in peripheral nervous system Schwann cells
SABiosciences Custom PCR Arrays for MPZ
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MPZ
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MPZ | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPZ | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPZ | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPZ |
Orthologs
for MPZ gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for MPZ gene from 2/8 species (see all 8) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
LOC1008596051 |
myelin protein P0-like |
70.51(n)
69.23(a) |
|
100859605 XM_003643815.1 XP_003643863.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
mpz2 |
myelin protein zero |
69.31(n) |
|
114417 AJ489219.1 |
ENSEMBL Gene Tree for MPZ (if available)
TreeFam Gene Tree for MPZ (if available) |
Paralogs
for MPZ gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MPZ gene
- MPZL22 SCN2B2 MPZL32 MPZL12 SCN4B2
4 SIMAP similar genes for MPZ using alignment to 3 protein entries: MYP0_HUMAN (see all proteins):P0 MPZL1 MPZL2 MPZL3
MPZ for paralogs About GeneDecksing
|
Genomic Variants
for MPZ gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 1 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for MPZ (161274525 - 161279762 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MPZ: --
Human Gene Mutation Database (HGMD): MPZ
Locus Specific Mutation Databases (LSDB): MPZ
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MPZ |
|
Disorders
/ Diseases
for MPZ gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MPZ for disorders About GeneDecksing
OMIM gene information: 159440
OMIM disorders: 118200 145900 605253 607736 180800 607677 607791
UniProtKB/Swiss-Prot: MYP0_HUMAN, P25189
Defects in MPZ are the cause of Charcot-Marie-Tooth disease type 1B (CMT1B) [MIM:118200]. CMT1B is a form ofCharcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Toothdisease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primaryperipheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of theCMT1 group are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmentaldemyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophyand weakness, absent deep tendon reflexes, and hollow feet Defects in MPZ are the cause of Charcot-Marie-Tooth disease type 2I (CMT2I) [MIM:607677]. CMT2I is a form ofCharcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Toothdisease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primaryperipheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of theCMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal orslightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. CMT2I ischaracterized by late onset (range 47 to 60 years) Defects in MPZ are the cause of Charcot-Marie-Tooth disease type 2J (CMT2J) [MIM:607736]. CMT2J is a form ofCharcot-Marie-Tooth disease characterized by the association of axonal peripheral neuropathy with hearing loss andpupillary abnormalities such as Adie pupil. Inheritance is autosomal dominant Defects in MPZ are the cause of Adie pupil (ADIEP) [MIM:103100]. A stationary, benign disorder characterizedby tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic ofCharcot-Marie-Tooth disease type 2J Defects in MPZ may be the cause of Charcot-Marie-Tooth disease dominant intermediate type D (CMTDID)[MIM:607791]. CMTDID is a form of Charcot-Marie-Tooth disease characterized by features intermediate betweendemyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45m/sec Defects in MPZ are a cause of Dejerine-Sottas syndrome (DSS) [MIM:145900]; also known as Dejerine-Sottasneuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy ofthe demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. DSS is characterized by motor andsensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations,hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant andautosomal recessive forms of Dejerine-Sottas syndrome Defects in MPZ are a cause of congenital hypomyelination neuropathy (CHN) [MIM:605253]. CHN is characterizedclinically by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities Defects in MPZ are a cause of Roussy-Levy syndrome (ROULS) [MIM:180800]; also known as Roussy-Levy hereditaryareflexic dystasia. This autosomal dominant disorder resembles Charcot-Marie-Tooth disease type 1 in that it presentswith foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes.The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia
20/70  diseases for MPZ (see all 70): About MalaCardscharcot-marie-tooth disease charcot-marie-tooth neuropathy charcot-marie-tooth disease type 1 charcot-marie-tooth disease type 2
charcot-marie-tooth neuropathy type 1 charcot-marie-tooth disease dominant intermediate 3 charcot-marie-tooth neuropathy type 1a charcot-marie-tooth disease type 2j
charcot-marie-tooth disease type 2i charcot-marie-tooth disease type 1b tooth disease charcot-marie-tooth neuropathy type 1b
neuropathy charcot-marie-tooth disease type 1a charcot-marie-tooth neuropathy type 2 slowed nerve conduction velocity
polyneuropathy hereditary neuropathy with liability to pressure palsies hereditary neuropathy with liability to pressure palsy spinal cord injury
4 diseases from the University of Copenhagen DISEASES database for MPZ:Neuropathy Myopathy Polyneuropathy Brachial plexus neuropathy 10/49 Novoseek disease relationships for MPZ gene (see all 49) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| charcot-marie-tooth disease |
96.4 |
250 |
12207932 (4), 1733853 (4), 7504284 (4), 15170620 (3) (see all 99) |
| dejerine-sottas disease |
95.4 |
37 |
10399750 (2), 9488160 (2), 9072299 (1), 9222756 (1) (see all 24) |
| hereditary neuropathy |
92.5 |
19 |
8800924 (1), 10589461 (1), 12207932 (1), 10226313 (1) (see all 18) |
| neuropathy, congenital hypomyelinating |
92.3 |
11 |
20385006 (1), 11701152 (1), 16252242 (1), 15261887 (1) (see all 7) |
| demyelination |
85.6 |
29 |
16856127 (2), 10586253 (2), 11112514 (1), 17961136 (1) (see all 24) |
| hereditary peripheral neuropathy |
85.1 |
3 |
10586252 (1), 7693873 (1) |
| sensory neuropathy |
82 |
18 |
8797476 (1), 10219749 (1), 8599717 (1), 11299480 (1) (see all 14) |
| multiple sclerosis |
79.4 |
40 |
1693015 (1), 1384994 (1), 7679413 (1), 7537052 (1) (see all 40) |
| demyelinating diseases |
78 |
12 |
15844172 (1), 18172773 (1), 10430042 (1), 10500203 (1) (see all 12) |
| hmsn type i |
77 |
2 |
11080236 (1) |
GeneTests: MPZ
Charcot-Marie-Tooth Neuropathy Type 2Charcot-Marie-Tooth Neuropathy Type 1
Genetic Association Database (GAD): MPZ
Human Genome Epidemiology (HuGE) Navigator: MPZ (9 documents)
Export disorders for MPZ gene to outside databases
|
Publications
for MPZ gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
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PubMed articles for MPZ gene, integrated from 9 sources (see all 520):
(articles sorted by number of sources associating them with MPZ) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. (PubMed id 7693129)1, 2, 3, 4 Hayasaka K.... Chance P.F. (1993)
- The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. (PubMed id 10071056)1, 2, 4, 9 De Jonghe P.... Van Broeckhoven C. (1999)
- Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PubMed id 11835375)1, 2, 4, 9 Boerkoel C.F.... Lupski J.R. (2002)
- An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val). (PubMed id 11080237)1, 2, 4, 9 Misu K.... Sobue G. (2000)
- Mutations in the myelin protein zero gene associated with Charcot- Marie-Tooth disease type 1B. (PubMed id 7550231)1, 2, 4, 9 Latour P.... Vandenberghe A. (1995)
- Phenotypic clustering in MPZ mutations. (PubMed id 14711881)1, 2, 9 Shy M.E.... Kamholz J. (2004)
- Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. (PubMed id 8664899)1, 2, 9 Roa B.B.... Lupski J.R. (1996)
- Myelin protein zero gene mutated in Charcot-Marie-Tooth type 1B patients. (PubMed id 7504284)1, 2, 9 Su Y....Lebo R.V. (1993)
- Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. (PubMed id 12477701)1, 2, 9 Hattori N.... Sobue G. (2003)
- Charcot-Marie-Tooth disease: a novel Tyr145Ser mutation in the myelin protein zero (MPZ, P0) gene causes different phenotypes in homozygous and heterozygous carriers within one family. (PubMed id 12845552)1, 2, 9 Leal A.... Heuss D. (2003)
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External Searches for MPZ gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing MPZ gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing MPZ gene
(According to HUGE)
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Specialized Databases showing MPZ gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MPZ | Pharmacogenomics, SNPs, Pathways | | Inherited peripheral neuropathies mutation db | http://www.molgen.ua.ac.be/CMTMutations/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MPZ |
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| Patent Information for MPZ gene:
Search GeneIP for patents involving MPZ
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for MPZ gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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| | |  | OriGene Antibodies for MPZ | | OriGene shRNA RFP for MPZ | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MPZ | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MPZ | | | OriGene Protein Over-expression Lysate for MPZ | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for MPZ | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MPZ | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MPZ | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for MPZ | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for MPZ | | OriGene Custom Protein Services for MPZ | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MPZ | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MPZ | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MPZ | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MPZ | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MPZ | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MPZ |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MPZ |
|  |  |  | | | | ThermoFisher Antibodies for MPZ |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MPZ |
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